The Cardiac Inherited Disease Registry New Zealand

Information for families:

The goal of the Cardiac Inherited Disease Registry New Zealand is to register, with your informed consent, all individuals and families affected by cardiac inherited disease in New Zealand. This includes sudden cardiac death (SCD) victims and their families and those who are resuscitated (RSCD) following a sudden cardiac arrest, without a firm diagnosis as to the cause.

The New Zealand Registry has been designed to group specific cardiac inherited diseases into individual registries, such as the Long QT registry, the Hypertrophic Cardiomyopathy registry, the Brugada syndrome (BRs) registry, the Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) registry, the Dilated Cardiomyopathy (DCM) registry and the Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) registry.   Collectively these registries are supported by a nationwide network of dedicated, experienced health professionals such as cardiologists, paediatricians, geneticists, genetic counsellors, laboratory scientists and  local clinical coordinators to smooth the path for people wanting to register and or access clinical tests and appointments.

A sudden cardiac death registry (SCD) operates for families where a member has died unexpectedly with no ‘apparent cause’, and for cases where specific cardiomyopathies (heart muscle abnormalities) are found at the time of post mortem. These findings may be ‘incidental’ and may not have caused any major symptoms in life. In such cases pathologists involve us so that we can pass on these findings to the family and provide information and clinical screening. We work actively with pathologists and the National Coronial Service to provide this service (please read the specific coronial information leaflet about suspected inherited heart disease here).

The Resuscitated Sudden Death (RSCD) registry is designed specifically so if a person is resuscitated, or has experienced life threatening heart rhythm disturbances, but has no diagnosis, they too can be registered and their families screened to prevent risk.

Who is eligible to enrol?

  1. You may enrol if you are diagnosed with a Cardiac Inherited Disease.
  2. You may also enrol if you are a family member of someone who has been diagnosed with a cardiac inherited disease (i.e. you are a parent, brother, sister or child of an affected person).

Please complete this form and we will contact you to provide you with relevant information and consent forms.

Your Name *

Your Date of Birth *

Your Email *

Your Phone Number *

Message

Specifically, the N.Z Cardiac Inherited Disease registry is designed to:

  • Coordinate standardised diagnostic heart screening tests for relatives of affected individuals, vital in preventing sudden death in families.
  • Collate clinical information from family members who may be spread throughout New Zealand and in other parts of the world to enable assessment of accurate family health information and history; this is a key part of our work.
  • Take careful family histories and investigate histories of sudden death in the family to update knowledge of disease severity in the family, thereby guiding treatment.
  • Provide a reliable source of up-to-date disease-specific information to individuals and their family members, including education, information and treatment assistance.
  • Establish national incidence and impact data that may govern national health strategies.
  • Investigate whether genetic (DNA) testing is appropriate for particular cardiac inherited diseases in individuals and or family members, as well as offer genetic counselling (preventing unnecessary repetition or unnecessary tests).
  • Interpret complex genetic test results in the light of the clinical findings in each family and provide explanation on what these often complex results actually mean for the family.
  • Provide ongoing research into specific genetic causes in cardiac inherited disease, including participation in cutting-edge international research collaborations.
  • Initiate gene-specific therapies as these are developed and, in particular, use the power of the registry to identify individuals and families that would benefit from these new treatments.
  • Actively research cardiac inherited disease, sudden death and resuscitated sudden death cases.
  • Coordinate a national approach with regular national specialist teleconferences and annual scientific meetings to enhance knowledge of the latest best practice in cardiac inherited disease for doctors and clinical specialist services throughout New Zealand.
  • Supporting local specialist clinics throughout New Zealand
    Identify triggers and risk factors in specific genes and conditions, and factor these into specific patient treatment advice and recommendations

By collecting data and undertaking risk prevention strategies, we can treat individuals and learn more about specific inherited heart diseases. This is vital in this emerging medical specialty service, both here and worldwide.  Understanding the prevalence and impact of cardiac inherited disease in New Zealand families is crucial to ensure that services are available to assist individuals and families at risk. Families in New Zealand are spread far and wide, and therefore a registry is the key to collating and detailing collective family disease-related information, particularly when considering treatment and interpreting clinical and genetic tests.

The registry is consent-based, with individuals providing informed consent to have their information collected and pooled with other family data to enable long-term monitoring of specific genes and conditions. Medical data from a single individual provides limited insight into how a clinical condition will manifest over time, however pooled data from many individuals and families, particularly those that share the same or very similar genetic features, provides a reliable source of invaluable clinical data that can be tracked over the course of time.  Likewise a single cardiologist will not simply be able to recall information for every individual in a family or every family they see, whereas a data registry has instant recall and can be used to recall individuals and families when new treatment or insight into their familial condition is identified.

A data registry can recall information and statistics very quickly, and when enough of it is gathered can be used to predict clinical outcomes, therefore identifying risks and benefits.   Therefore this validated information can be used to research and advance knowledge into cardiac inherited disease, as well as picking up variables or differences that occur between individuals and families that share the same condition.  Thus a registry approach to cardiac inherited disease in New Zealand is deemed to be vital.

The importance of family history:  
A very important part of our role is to ensure that a thorough family history has been documented.  Cardiac inherited disease can often be found in several generations in a family when a careful family history is taken by a medical professional – but sometimes families themselves may not recognise trends in their history as they are often told that deaths are due to ‘heart attacks’. These, of course, are different to sudden cardiac arrest, where the heart suddenly goes into a chaotic rhythm and collapse and sudden death can occur without immediate resuscitation.  Sometimes symptoms or disease appear to ‘skip’ a generation in families and therefore they may go unnoticed in some families. Thus working through the family history in a structured manner with several members of the family present – in particular parents and grandparents – can be very informative for families and form the basis of diagnosis.  Often with family consent we are able to obtain archived copies of post-mortem reports that will also provide vital information about previous deaths in the family.

About the Registry:
The Cardiac Inherited Disease Registry New Zealand began in Auckland as a local registry in 2001 but gained National Ethical Approval in 2009 and continues to be ethically monitored and approved by the National Ethics Committee. Since 2009 we have grown and now have clinical coordinators in Auckland, Waikato, and Wellington, with a further coordinator planned for Christchurch very soon.

Local coordinators enable families to have a contact person who can help them obtain screening appointments and assist them as their families continue to grow over the course of time.

Specialised Inherited Heart Disease Clinics are organised and run regularly. Appointments are by referral so that families can be seen together and offered the same information and advice, as well as provide a chance to discuss the implications for them and their family as a whole.  Genetic counselling and psychological support can also be accessed through these clinics.

Can we help you or your family?

Enrolment in the Registry can be completed at the time of initial diagnosis; or at any time thereafter by your specialist, GP, or via self-referral to your local clinical coordinator. Once we have a verified diagnosis or suspicious symptoms and or clinical findings in you or a family member we will make a time to meet you to discuss your family history further.  From there we can arrange clinical tests for you and your family and offer you registration on the N.Z registry if you would like to be part of the registry.

Each family has a story to tell and an important role to play in determining their own health future and your registration will ultimately enable better services to be available for you and your family into the future.  Please feel free to make contact with us using the form on this page or finding our details on the contact us page.

Jackie Crawford

National Coordinator

Cardiac Inherited Disease Registry N.Z.